Knobloch syndrome 1

Preferred Label : Knobloch syndrome 1;

Symbol : KNO1;

CISMeF acronym : KNO; KNO1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal detachment and occipital encephalocele; KNO;

Description : Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen XVIII, alpha-1 polypeptide gene (COL18A1, 120328.0001);

Prefixed ID : #267750;

Details

Origin ID

267750;

UMLS CUI

C4551775;

Automatic exact mappings (from CISMeF team)
- COL18A1 wt Allele [NCIt concept]
- collagen type XVIII alpha 1 chain [ORDO Gene]
- collagen type XVIII alpha 1 chain [HGNC gene]
- symbol withdrawn KNO [HGNC gene]
Broader ORDO disease(s)
- Knobloch syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Knobloch syndrome [Disease (Nov.)]
- Knobloch syndrome [MeSH concept]
- Knobloch syndrome [ORDO Disease]
- Retinal detachment and occipital encephalocele (disorder) [SNOMED CT concept]
- knobloch syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type XVIII, alpha-1 [OMIM gene]
HPO term(s)
- Absent septum pellucidum [HPO term]
- Alopecia of scalp [HPO term]
- Ataxia [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Band keratopathy [HPO term]
- Bifid ureter [HPO term]
- Bulbous nose [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Chorioretinal atrophy [HPO term]
- Congenital onset [HPO term]
- Cortical cataract [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Duplicated collecting system [HPO term]
- Epicanthus [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- High myopia [HPO term]
- Horizontal eyebrow [HPO term]
- Horizontal nystagmus [HPO term]
- Hydronephrosis [HPO term]
- Intellectual disability [HPO term]
- Iris transillumination defect [HPO term]
- Joint hypermobility [HPO term]
- Lens subluxation [HPO term]
- Macular hypoplasia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Myoclonic seizure [HPO term]
- Narrow face [HPO term]
- Narrow forehead [HPO term]
- Nystagmus [HPO term]
- Occipital encephalocele [HPO term]
- Occipital meningocele [HPO term]
- Optic disc pallor [HPO term]
- Patent ductus arteriosus [HPO term]
- Peripapillary atrophy [HPO term]
- Persistent pupillary membrane [HPO term]
- Phthisis bulbi [HPO term]
- Polymicrogyria [HPO term]
- Prominent forehead [HPO term]
- Pyloric stenosis [HPO term]
- Renal duplication [HPO term]
- Retinal detachment [HPO term]
- Seizure [HPO term]
- Spina bifida occulta [HPO term]
- Telecanthus [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
- Vitreoretinopathy [HPO term]
ORDO concept(s)
- Knobloch syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Knobloch Syndrome 1 [NCIt concept]
- Knobloch syndrome [ORDO Disease]
- Knobloch syndrome [MeSH concept]
- Knobloch syndrome [Disease (Nov.)]
- Retinal detachment and occipital encephalocele (disorder) [SNOMED CT concept]
- knobloch syndrome [MeSH Supplementary Concept]

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